Varaico: Literature-Extracted Genetic Variants

Gene:TGIF1
Variant:p.R90C
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TGIF1

NM_003244.4:p.R90C

Associated Papers

Structural insights into the binding of human TGIF1 with SMAD2 MH2 domain.

Zhou H et al.

Febs Letters, 2025

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.

Nakaguma M et al.

Genes, 2021

Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly.

Wotton D et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018

Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.

Taniguchi K et al.

Plos Genetics, 2012

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

Paulussen AD et al.

European Journal of Human Genetics : Ejhg, 2010

Functional analysis of mutations in TGIF associated with holoprosencephaly.

El-Jaick KB et al.

Molecular Genetics and Metabolism, 2007

Dissecting the genetics of human high myopia: a molecular biologic approach.

Young TL

Transactions of the American Ophthalmological Society, 2004

Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis.

Chen CP et al.

Prenatal Diagnosis, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."